| PEROXISOME BIOGENESIS DISORDER 2B (PBD2B) | |
| ADRENOLEUKODYSTROPHY, NEONATAL | |
|
202370
OMIM = Online Mendelian Inheritance of Men | |
|
44 | |
| Peroxisomal targeting signal 1 receptor | |
| rare (>200 cases) autosomal recessive mutation in the PEX5 gene | |
| Laboratory findings | Trihydroxycholestanoic acid (THCA) inc (plasma) Adipic acid inc (urine) Alkyl-dihydroxyacetone-phosphate synthase () Azelaic acid inc (urine) C26:0 inc (plasma) Dicarboxylic acids inc (urine) Dihydroxyacetone-phosphate acyltransferase (DHAPAT) () Dihydroxycholestanoic acid (DHCA) inc (plasma) Hexacosenoic acid C26:1 inc (plasma) Peroxisomal 3-oxoacyl-CoA thiolase () Peroxisomal Acyl-CoA oxidase () Peroxisomal bifunctional enzyme () Phytanic acid inc (plasma) Phytanic acid oxidation () Pimelic acid inc (urine) Pipecolic acid () Pristanic acid inc (plasma) Sebacic acid inc (urine) Suberic acid inc (urine) Very-long-chain fatty acid oxidation () Very-long-chain fatty acids inc (serum) |
| Symptoms | infections (severe or recurrent) adrenal atrophy (autopsy) adrenal insufficiency blindness, visual loss, visual impairment cataract demyelinisation dysmorphism early death EEG abnormalities [-] epicanthus or medial eyelid fold failure to thrive feeding difficulties, poor feeding hearing defect, deafness low set ears mental retardation micropolygyria MRI, brain, abnormalities [-] neurological deterioration onset, neonatal Peroxisomes, liver Plasmalogens, biosynthesis prominent forehead seizures |